Canonical Allele Identifier: CA2638709071

Gene: COL1A1

Linked Data

• gnomAD v4: 17-50188486-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.50188486C>G , CM000679.2:g.50188486C>G	GRCh38
NC_000017.10:g.48265847C>G , CM000679.1:g.48265847C>G	GRCh37
NC_000017.9:g.45620846C>G	NCBI36
NG_007400.1:g.18154G>C , LRG_1:g.18154G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000225964.10:c.3207+44G>C MANE Select	ENSP00000225964.6:n.3207+44G>C
ENST00000225964.9:c.3207+44G>C	ENSP00000225964.5:n.3207+44G>C
ENST00000486572.1:n.69G>C
ENST00000511732.1:n.195G>C
NM_000088.3:c.3207+44G>C , LRG_1t1:c.3207+44G>C	NP_000079.2:n.3207+44G>C
XM_005257058.3:c.2937+44G>C	XP_005257115.2:n.2937+44G>C
XM_005257059.3:c.2289+44G>C	XP_005257116.2:n.2289+44G>C
XM_011524341.1:c.3009+44G>C	XP_011522643.1:n.3009+44G>C
XM_005257058.4:c.2937+44G>C	XP_005257115.2:n.2937+44G>C
XM_005257059.4:c.2289+44G>C	XP_005257116.2:n.2289+44G>C
NM_000088.4:c.3207+44G>C MANE Select	NP_000079.2:n.3207+44G>C