Canonical Allele Identifier: CA400191242

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185788T>C , CM000679.2:g.50185788T>C	GRCh38
NC_000017.10:g.48263149T>C , CM000679.1:g.48263149T>C	GRCh37
NC_000017.9:g.45618148T>C	NCBI36
NG_007400.1:g.20852A>G , LRG_1:g.20852A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000088.4:c.4238A>G MANE Select	NP_000079.2:p.Asp1413Gly
ENST00000225964.10:c.4238A>G MANE Select	ENSP00000225964.6:p.Asp1413Gly
NM_000088.3:c.4238A>G , LRG_1t1:c.4238A>G	NP_000079.2:p.Asp1413Gly
ENST00000225964.9:c.4238A>G	ENSP00000225964.5:p.Asp1413Gly
XM_005257058.3:c.3968A>G	XP_005257115.2:p.Asp1323Gly
XM_005257058.4:c.3968A>G	XP_005257115.2:p.Asp1323Gly
XM_005257059.3:c.3320A>G	XP_005257116.2:p.Asp1107Gly
XM_005257059.4:c.3320A>G	XP_005257116.2:p.Asp1107Gly
XM_011524341.1:c.4040A>G	XP_011522643.1:p.Asp1347Gly