Canonical Allele Identifier: CA400190332

Gene: COL1A1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50185572A>G , CM000679.2:g.50185572A>G	GRCh38
NC_000017.10:g.48262933A>G , CM000679.1:g.48262933A>G	GRCh37
NC_000017.9:g.45617932A>G	NCBI36
NG_007400.1:g.21068T>C , LRG_1:g.21068T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000225964.10:c.4325T>C MANE Select	ENSP00000225964.6:p.Val1442Ala
ENST00000225964.9:c.4325T>C	ENSP00000225964.5:p.Val1442Ala
NM_000088.3:c.4325T>C , LRG_1t1:c.4325T>C	NP_000079.2:p.Val1442Ala
XM_005257058.3:c.4055T>C	XP_005257115.2:p.Val1352Ala
XM_005257059.3:c.3407T>C	XP_005257116.2:p.Val1136Ala
XM_011524341.1:c.4127T>C	XP_011522643.1:p.Val1376Ala
XM_005257058.4:c.4055T>C	XP_005257115.2:p.Val1352Ala
XM_005257059.4:c.3407T>C	XP_005257116.2:p.Val1136Ala
NM_000088.4:c.4325T>C MANE Select	NP_000079.2:p.Val1442Ala