Canonical Allele Identifier: CA400190398

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185576C>G , CM000679.2:g.50185576C>G	GRCh38
NC_000017.10:g.48262937C>G , CM000679.1:g.48262937C>G	GRCh37
NC_000017.9:g.45617936C>G	NCBI36
NG_007400.1:g.21064G>C , LRG_1:g.21064G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4321G>C MANE Select	NP_000079.2:p.Asp1441His
ENST00000225964.10:c.4321G>C MANE Select	ENSP00000225964.6:p.Asp1441His
NM_000088.3:c.4321G>C , LRG_1t1:c.4321G>C	NP_000079.2:p.Asp1441His
ENST00000225964.9:c.4321G>C	ENSP00000225964.5:p.Asp1441His
XM_005257058.3:c.4051G>C	XP_005257115.2:p.Asp1351His
XM_005257058.4:c.4051G>C	XP_005257115.2:p.Asp1351His
XM_005257059.3:c.3403G>C	XP_005257116.2:p.Asp1135His
XM_005257059.4:c.3403G>C	XP_005257116.2:p.Asp1135His
XM_011524341.1:c.4123G>C	XP_011522643.1:p.Asp1375His