Canonical Allele Identifier: CA685603405

Gene: ERC1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1339985G>A , CM000674.2:g.1339985G>A	GRCh38
NC_000012.11:g.1449151G>A , CM000674.1:g.1449151G>A	GRCh37
NC_000012.10:g.1319412G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178040.4:c.2781-31848G>A MANE Select	NP_829884.1:n.2781-31848G>A
ENST00000360905.9:c.2781-31848G>A MANE Select	ENSP00000354158.3:n.2781-31848G>A
NM_001301248.1:c.2781-31848G>A	NP_001288177.1:n.2781-31848G>A
NM_178039.3:c.2697-31848G>A	NP_829883.1:n.2697-31848G>A
NM_178039.4:c.2697-31848G>A	NP_829883.1:n.2697-31848G>A
NM_178040.3:c.2781-31848G>A	NP_829884.1:n.2781-31848G>A
NR_027946.2:n.3013-31848G>A
NR_027946.3:n.2998-31848G>A
NR_027948.2:n.3145-31848G>A
NR_027948.3:n.3130-31848G>A
NR_027949.2:n.2164-31848G>A
NR_027949.3:n.2149-31848G>A
ENST00000347735.10:c.2577-31848G>A	ENSP00000340054.6:n.2577-31848G>A
ENST00000355446.9:c.2781-31848G>A	ENSP00000347621.5:n.2781-31848G>A
ENST00000360905.8:c.2781-31848G>A	ENSP00000354158.3:n.2781-31848G>A
ENST00000397203.6:c.2697-31848G>A	ENSP00000380386.3:n.2697-31848G>A
ENST00000397203.7:c.2781-31848G>A	ENSP00000380386.4:n.2781-31848G>A
ENST00000440394.7:c.2709-31848G>A	ENSP00000410064.2:n.2709-31848G>A
ENST00000538971.6:n.1931-31848G>A
ENST00000542302.6:c.2661-31848G>A	ENSP00000445336.2:n.2661-31848G>A
ENST00000543086.7:c.2697-31848G>A	ENSP00000438546.1:n.2697-31848G>A
ENST00000543263.2:n.394-31848G>A
ENST00000545948.5:c.1893-31848G>A	ENSP00000442976.1:n.1893-31848G>A
ENST00000546231.6:c.2793-31848G>A	ENSP00000442739.2:n.2793-31848G>A
ENST00000588412.5:c.587-31848G>A
ENST00000589028.5:c.2781-31848G>A	ENSP00000468263.1:n.2781-31848G>A
ENST00000589028.6:c.2781-31848G>A	ENSP00000468263.1:n.2781-31848G>A
ENST00000611180.4:c.1893-31848G>A	ENSP00000479523.1:n.1893-31848G>A
ENST00000690948.1:n.2287-31848G>A
XM_011520936.1:c.2709-31848G>A	XP_011519238.1:n.2709-31848G>A
XM_011520937.1:c.2802-31848G>A	XP_011519239.1:n.2802-31848G>A
XM_011520938.1:c.2802-31848G>A	XP_011519240.1:n.2802-31848G>A
XM_011520939.1:c.2793-31848G>A	XP_011519241.1:n.2793-31848G>A
XM_011520940.1:c.2790-31848G>A	XP_011519242.1:n.2790-31848G>A
XM_011520941.1:c.2781-31848G>A	XP_011519243.1:n.2781-31848G>A
XM_011520941.2:c.2781-31848G>A	XP_011519243.1:n.2781-31848G>A
XM_011520942.1:c.2697-31848G>A	XP_011519244.1:n.2697-31848G>A
XM_011520943.1:c.2670-31848G>A	XP_011519245.1:n.2670-31848G>A
XM_011520944.1:c.2661-31848G>A	XP_011519246.1:n.2661-31848G>A
XM_017019052.1:c.2856-31848G>A	XP_016874541.1:n.2856-31848G>A
XM_017019053.1:c.2856-31848G>A	XP_016874542.1:n.2856-31848G>A
XM_017019054.1:c.2856-31848G>A	XP_016874543.1:n.2856-31848G>A
XM_017019055.2:c.2856-31848G>A	XP_016874544.1:n.2856-31848G>A
XM_017019056.1:c.2856-31848G>A	XP_016874545.1:n.2856-31848G>A
XM_017019057.1:c.2847-31848G>A	XP_016874546.1:n.2847-31848G>A
XM_017019058.1:c.2847-31848G>A	XP_016874547.1:n.2847-31848G>A
XM_017019059.1:c.2844-31848G>A	XP_016874548.1:n.2844-31848G>A
XM_017019060.1:c.2835-31848G>A	XP_016874549.1:n.2835-31848G>A
XM_017019061.1:c.2802-31848G>A	XP_016874550.1:n.2802-31848G>A
XM_017019062.1:c.2793-31848G>A	XP_016874551.1:n.2793-31848G>A
XM_017019063.1:c.2790-31848G>A	XP_016874552.1:n.2790-31848G>A
XM_017019064.1:c.2781-31848G>A	XP_016874553.1:n.2781-31848G>A
XM_017019065.1:c.2763-31848G>A	XP_016874554.1:n.2763-31848G>A
XM_017019066.1:c.2709-31848G>A	XP_016874555.1:n.2709-31848G>A
XM_017019067.1:c.2697-31848G>A	XP_016874556.1:n.2697-31848G>A
XM_017019068.1:c.2781-31848G>A	XP_016874557.1:n.2781-31848G>A
XM_017019069.1:c.2670-31848G>A	XP_016874558.1:n.2670-31848G>A
XM_017019070.1:c.2649-31848G>A	XP_016874559.1:n.2649-31848G>A
XM_017019071.1:c.2577-31848G>A	XP_016874560.1:n.2577-31848G>A
XM_017019072.1:c.2856-31848G>A	XP_016874561.1:n.2856-31848G>A
XM_017019074.1:c.1068-31848G>A	XP_016874563.1:n.1068-31848G>A
XM_017019075.1:c.1014-31848G>A	XP_016874564.1:n.1014-31848G>A
XR_001748631.2:n.3237-31848G>A
XR_001748632.1:n.3183-31848G>A
XR_001748633.1:n.3171-31848G>A
XR_001748634.1:n.3279-31848G>A
XR_001748635.1:n.2950-31848G>A
XR_001748636.1:n.3051-31848G>A
XR_001748637.1:n.3042-31848G>A
XR_931508.1:n.3099-31848G>A
XR_931509.1:n.3100-31848G>A
XR_931510.1:n.3086-31848G>A