Canonical Allele Identifier: CA350919211

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.230216925C>A , CM000664.2:g.230216925C>A GRCh38
NC_000002.11:g.231081640C>A , CM000664.1:g.231081640C>A GRCh37
NC_000002.10:g.230789884C>A NCBI36
NG_008295.1:g.8188G>T , LRG_109:g.8188G>T
NG_051286.1:g.19002C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000462232.2:c.-462-1807G>T (SP110) ENSP00000513566.1:n.-462-1807G>T
ENST00000489597.2:c.3G>T (SP110) ENSP00000513565.1:p.Met1Ile
ENST00000698099.1:c.3G>T (SP110) ENSP00000513563.1:p.Met1Ile
ENST00000698100.1:c.3G>T (SP110) ENSP00000513564.1:p.Met1Ile
ENST00000698102.1:n.144G>T (SP110)
ENST00000698103.1:c.3G>T (SP110) ENSP00000513567.1:p.Met1Ile
ENST00000698104.1:n.144G>T (SP110)
ENST00000258381.11:c.3G>T (SP110) MANE Select ENSP00000258381.6:p.Met1Ile
ENST00000258382.10:c.3G>T (SP110) ENSP00000258382.5:p.Met1Ile
ENST00000358662.9:c.3G>T (SP110) ENSP00000351488.4:p.Met1Ile
ENST00000540870.5:c.21G>T (SP110) ENSP00000439558.1:p.Met7Ile
ENST00000258381.10:c.3G>T (SP110) ENSP00000258381.6:p.Met1Ile
ENST00000258382.9:c.3G>T (SP110) ENSP00000258382.5:p.Met1Ile
ENST00000358662.8:c.3G>T (SP110) ENSP00000351488.4:p.Met1Ile
ENST00000392048.7:c.3G>T (SP110) ENSP00000375902.3:p.Met1Ile
ENST00000409815.6:c.3G>T (SP110) ENSP00000387172.2:p.Met1Ile
ENST00000416610.1:c.3G>T (SP110) ENSP00000399978.1:p.Met1Ile
ENST00000455674.2:c.-32-104G>T (SP110) ENSP00000393992.1:n.-32-104G>T
ENST00000456542.5:c.-91+2851C>A (SP140) ENSP00000475284.1:n.-91+2851C>A
ENST00000462232.1:n.117-1807G>T (SP110)
ENST00000540870.4:c.21G>T ENSP00000439558.1:p.Met7Ile
NM_001185015.1:c.21G>T (SP110) NP_001171944.1:p.Met7Ile
NM_004509.3:c.3G>T (SP110) NP_004500.3:p.Met1Ile
NM_004510.3:c.3G>T (SP110) NP_004501.3:p.Met1Ile
NM_080424.2:c.3G>T , LRG_109t1:c.3G>T (SP110) NP_536349.2:p.Met1Ile
XM_005246525.2:c.21G>T (SP110) XP_005246582.1:p.Met7Ile
XM_006712487.2:c.21G>T (SP110) XP_006712550.1:p.Met7Ile
XM_006712489.2:c.21G>T (SP110) XP_006712552.1:p.Met7Ile
XM_011510517.1:c.-2+2851C>A (SP140) XP_011508819.1:n.-2+2851C>A
XM_011511088.1:c.21G>T (SP110) XP_011509390.1:p.Met7Ile
XM_011511089.1:c.3G>T (SP110) XP_011509391.1:p.Met1Ile
XM_011511090.1:c.21G>T (SP110) XP_011509392.1:p.Met7Ile
XM_011511091.1:c.21G>T (SP110) XP_011509393.1:p.Met7Ile
XM_011511092.1:c.-462-1807G>T (SP110) XP_011509394.1:n.-462-1807G>T
XM_005246525.4:c.21G>T (SP110) XP_005246582.1:p.Met7Ile
XM_006712487.3:c.21G>T (SP110) XP_006712550.1:p.Met7Ile
XM_006712489.4:c.21G>T (SP110) XP_006712552.1:p.Met7Ile
XM_011510517.3:c.-2+2851C>A (SP140) XP_011508819.1:n.-2+2851C>A
XM_011511088.3:c.21G>T (SP110) XP_011509390.1:p.Met7Ile
XM_011511089.3:c.3G>T (SP110) XP_011509391.1:p.Met1Ile
XM_011511090.3:c.21G>T (SP110) XP_011509392.1:p.Met7Ile
XM_011511091.3:c.21G>T (SP110) XP_011509393.1:p.Met7Ile
XM_011511092.3:c.-462-1807G>T (SP110) XP_011509394.1:n.-462-1807G>T
XM_017003968.2:c.21G>T (SP110) XP_016859457.1:p.Met7Ile
XM_017003969.1:c.21G>T (SP110) XP_016859458.1:p.Met7Ile
XM_024452850.1:c.21G>T (SP110) XP_024308618.1:p.Met7Ile
XM_024452851.1:c.3G>T (SP110) XP_024308619.1:p.Met1Ile
NM_001185015.2:c.21G>T (SP110) NP_001171944.1:p.Met7Ile
NM_004509.4:c.3G>T (SP110) NP_004500.4:p.Met1Ile
NM_004510.4:c.3G>T (SP110) NP_004501.4:p.Met1Ile
NM_080424.3:c.3G>T (SP110) NP_536349.3:p.Met1Ile
NM_001378442.1:c.21G>T (SP110) NP_001365371.1:p.Met7Ile
NM_001378443.1:c.3G>T (SP110) NP_001365372.1:p.Met1Ile
NM_001378444.1:c.21G>T (SP110) NP_001365373.1:p.Met7Ile
NM_001378445.1:c.21G>T (SP110) NP_001365374.1:p.Met7Ile
NM_001378446.1:c.21G>T (SP110) NP_001365375.1:p.Met7Ile
NM_001378447.1:c.3G>T (SP110) NP_001365376.1:p.Met1Ile
NM_004509.5:c.3G>T (SP110) NP_004500.4:p.Met1Ile
NM_080424.4:c.3G>T (SP110) MANE Select NP_536349.3:p.Met1Ile