Canonical Allele Identifier: CA8644186

Gene: COL1A1

Linked Data

• dbSNP Id: rs760417442
• ExAC: 17:48262950 G / A
• gnomAD v2: 17-48262950-G-A
• gnomAD v3: 17-50185589-G-A
• gnomAD v4: 17-50185589-G-A
• MyVariant Identifiers: chr17:g.48262950G>A (hg19) ; chr17:g.50185589G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185589G>A , CM000679.2:g.50185589G>A	GRCh38
NC_000017.10:g.48262950G>A , CM000679.1:g.48262950G>A	GRCh37
NC_000017.9:g.45617949G>A	NCBI36
NG_007400.1:g.21051C>T , LRG_1:g.21051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4308C>T MANE Select	ENSP00000225964.6:p.Arg1436=
ENST00000225964.9:c.4308C>T	ENSP00000225964.5:p.Arg1436=
NM_000088.3:c.4308C>T , LRG_1t1:c.4308C>T	NP_000079.2:p.Arg1436=
XM_005257058.3:c.4038C>T	XP_005257115.2:p.Arg1346=
XM_005257059.3:c.3390C>T	XP_005257116.2:p.Arg1130=
XM_011524341.1:c.4110C>T	XP_011522643.1:p.Arg1370=
XM_005257058.4:c.4038C>T	XP_005257115.2:p.Arg1346=
XM_005257059.4:c.3390C>T	XP_005257116.2:p.Arg1130=
NM_000088.4:c.4308C>T MANE Select	NP_000079.2:p.Arg1436=