Canonical Allele Identifier: CA2263917476

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50192659G= , CM000679.2:g.50192659G=	GRCh38
NC_000017.10:g.48270020G= , CM000679.1:g.48270020G=	GRCh37
NC_000017.9:g.45625019G=	NCBI36
NG_007400.1:g.13981C= , LRG_1:g.13981C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.1910C= MANE Select	ENSP00000225964.6:p.Ala637=
ENST00000225964.9:c.1910C=	ENSP00000225964.5:p.Ala637=
ENST00000476387.1:n.259C=
NM_000088.3:c.1910C= , LRG_1t1:c.1910C=	NP_000079.2:p.Ala637=
XM_005257058.3:c.1910C=	XP_005257115.2:p.Ala637=
XM_005257059.3:c.992C=	XP_005257116.2:p.Ala331=
XM_011524341.1:c.1712C=	XP_011522643.1:p.Ala571=
XM_005257058.4:c.1910C=	XP_005257115.2:p.Ala637=
XM_005257059.4:c.992C=	XP_005257116.2:p.Ala331=
NM_000088.4:c.1910C= MANE Select	NP_000079.2:p.Ala637=