Canonical Allele Identifier: CA8644327

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50186457C>G , CM000679.2:g.50186457C>G	GRCh38
NC_000017.10:g.48263818C>G , CM000679.1:g.48263818C>G	GRCh37
NC_000017.9:g.45618817C>G	NCBI36
NG_007400.1:g.20183G>C , LRG_1:g.20183G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.3865G>C MANE Select	ENSP00000225964.6:p.Val1289Leu
ENST00000225964.9:c.3865G>C	ENSP00000225964.5:p.Val1289Leu
ENST00000510710.3:n.534G>C
NM_000088.3:c.3865G>C , LRG_1t1:c.3865G>C	NP_000079.2:p.Val1289Leu
XM_005257058.3:c.3595G>C	XP_005257115.2:p.Val1199Leu
XM_005257059.3:c.2947G>C	XP_005257116.2:p.Val983Leu
XM_011524341.1:c.3667G>C	XP_011522643.1:p.Val1223Leu
XM_005257058.4:c.3595G>C	XP_005257115.2:p.Val1199Leu
XM_005257059.4:c.2947G>C	XP_005257116.2:p.Val983Leu
NM_000088.4:c.3865G>C MANE Select	NP_000079.2:p.Val1289Leu