Canonical Allele Identifier: CA2842278846

Gene: ERC1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.1416171C>T , CM000674.2:g.1416171C>T	GRCh38
NC_000012.11:g.1525337C>T , CM000674.1:g.1525337C>T	GRCh37
NC_000012.10:g.1395598C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_178040.4:c.3024+7924C>T MANE Select	NP_829884.1:n.3024+7924C>T
ENST00000360905.9:c.3024+7924C>T MANE Select	ENSP00000354158.3:n.3024+7924C>T
NM_001301248.1:c.3024+7924C>T	NP_001288177.1:n.3024+7924C>T
NM_178039.3:c.2940+7924C>T	NP_829883.1:n.2940+7924C>T
NM_178039.4:c.2940+7924C>T	NP_829883.1:n.2940+7924C>T
NM_178040.3:c.3024+7924C>T	NP_829884.1:n.3024+7924C>T
NR_027946.2:n.3321+5718C>T
NR_027946.3:n.3306+5718C>T
NR_027948.2:n.3453+5718C>T
NR_027948.3:n.3438+5718C>T
NR_027949.2:n.2472+5718C>T
NR_027949.3:n.2457+5718C>T
ENST00000347735.10:c.*38+5718C>T	ENSP00000340054.6:n.*38+5718C>T
ENST00000355446.9:c.3024+7924C>T	ENSP00000347621.5:n.3024+7924C>T
ENST00000360905.8:c.3024+7924C>T	ENSP00000354158.3:n.3024+7924C>T
ENST00000397203.6:c.2940+7924C>T	ENSP00000380386.3:n.2940+7924C>T
ENST00000397203.7:c.3024+7924C>T	ENSP00000380386.4:n.3024+7924C>T
ENST00000440394.7:c.*38+5718C>T	ENSP00000410064.2:n.*38+5718C>T
ENST00000538971.6:n.2239+5718C>T
ENST00000539802.2:c.56+7924C>T
ENST00000542302.6:c.*38+5718C>T	ENSP00000445336.2:n.*38+5718C>T
ENST00000543086.7:c.2940+7924C>T	ENSP00000438546.1:n.2940+7924C>T
ENST00000545948.5:c.*38+5718C>T	ENSP00000442976.1:n.*38+5718C>T
ENST00000546231.6:c.3036+7924C>T	ENSP00000442739.2:n.3036+7924C>T
ENST00000588412.5:c.895+5718C>T
ENST00000589028.5:c.3024+7924C>T	ENSP00000468263.1:n.3024+7924C>T
ENST00000589028.6:c.3024+7924C>T	ENSP00000468263.1:n.3024+7924C>T
ENST00000611180.4:c.*38+5718C>T	ENSP00000479523.1:n.*38+5718C>T
XM_011520936.1:c.2952+7924C>T	XP_011519238.1:n.2952+7924C>T
XM_011520937.1:c.3045+7924C>T	XP_011519239.1:n.3045+7924C>T
XM_011520938.1:c.3045+7924C>T	XP_011519240.1:n.3045+7924C>T
XM_011520939.1:c.3036+7924C>T	XP_011519241.1:n.3036+7924C>T
XM_011520940.1:c.3033+7924C>T	XP_011519242.1:n.3033+7924C>T
XM_011520941.1:c.3024+7924C>T	XP_011519243.1:n.3024+7924C>T
XM_011520941.2:c.3024+7924C>T	XP_011519243.1:n.3024+7924C>T
XM_011520942.1:c.2940+7924C>T	XP_011519244.1:n.2940+7924C>T
XM_011520943.1:c.*38+5718C>T	XP_011519245.1:n.*38+5718C>T
XM_011520944.1:c.*38+5718C>T	XP_011519246.1:n.*38+5718C>T
XM_017019052.1:c.3099+7924C>T	XP_016874541.1:n.3099+7924C>T
XM_017019053.1:c.3099+7924C>T	XP_016874542.1:n.3099+7924C>T
XM_017019054.1:c.3099+7924C>T	XP_016874543.1:n.3099+7924C>T
XM_017019055.2:c.3099+7924C>T	XP_016874544.1:n.3099+7924C>T
XM_017019056.1:c.3099+7924C>T	XP_016874545.1:n.3099+7924C>T
XM_017019057.1:c.3090+7924C>T	XP_016874546.1:n.3090+7924C>T
XM_017019058.1:c.3090+7924C>T	XP_016874547.1:n.3090+7924C>T
XM_017019059.1:c.3087+7924C>T	XP_016874548.1:n.3087+7924C>T
XM_017019060.1:c.3078+7924C>T	XP_016874549.1:n.3078+7924C>T
XM_017019061.1:c.3045+7924C>T	XP_016874550.1:n.3045+7924C>T
XM_017019062.1:c.3036+7924C>T	XP_016874551.1:n.3036+7924C>T
XM_017019063.1:c.3033+7924C>T	XP_016874552.1:n.3033+7924C>T
XM_017019064.1:c.3024+7924C>T	XP_016874553.1:n.3024+7924C>T
XM_017019065.1:c.3006+7924C>T	XP_016874554.1:n.3006+7924C>T
XM_017019066.1:c.2952+7924C>T	XP_016874555.1:n.2952+7924C>T
XM_017019067.1:c.2940+7924C>T	XP_016874556.1:n.2940+7924C>T
XM_017019068.1:c.3024+7924C>T	XP_016874557.1:n.3024+7924C>T
XM_017019069.1:c.2913+7924C>T	XP_016874558.1:n.2913+7924C>T
XM_017019070.1:c.2892+7924C>T	XP_016874559.1:n.2892+7924C>T
XM_017019071.1:c.2820+7924C>T	XP_016874560.1:n.2820+7924C>T
XM_017019072.1:c.*38+5718C>T	XP_016874561.1:n.*38+5718C>T
XM_017019074.1:c.1311+7924C>T	XP_016874563.1:n.1311+7924C>T
XM_017019075.1:c.1257+7924C>T	XP_016874564.1:n.1257+7924C>T
XR_001748631.2:n.3756+3633C>T
XR_001748632.1:n.3491+5718C>T
XR_001748633.1:n.3479+5718C>T
XR_001748634.1:n.3587+5718C>T
XR_001748635.1:n.3258+5718C>T
XR_001748636.1:n.3359+5718C>T
XR_001748637.1:n.3350+5718C>T
XR_931508.1:n.3407+5718C>T
XR_931509.1:n.3619+3633C>T
XR_931510.1:n.3394+5718C>T